Actively Recruiting
Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
Led by Boston Children's Hospital · Updated on 2026-03-18
200
Participants Needed
1
Research Sites
261 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
The purpose of the HSP Sequencing Initiative is to better understand the role of genetics in hereditary spastic paraplegia (HSP) and related disorders. The HSPs are a group of more than 80 inherited neurological diseases that share the common feature of progressive spasticity. Collectively, the HSPs present the most common cause of inherited spasticity and associated disability, with a combined prevalence of 2-5 cases per 100,000 individuals worldwide. In childhood-onset forms, initial symptoms are often non-specific and many children may not receive a diagnosis until progressive features are recognized, often leading to a significant diagnostic delay. Genetic testing in children with spastic paraplegia is not yet standard practice. In this study, the investigators hope to identify genetic factors related to HSP. By identifying different genetic factors, the investigators hope that over time we can develop better treatments for sub-categories of HSP based on cause.
CONDITIONS
Official Title
Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Clinical diagnosis of progressive spasticity
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
Research Team
D
Darius Ebrahimi-Fakhari, MD, PhD
CONTACT
A
Amy Tam, BS
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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